A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,General Medicine
Link
http://link.springer.com/article/10.1186/s12876-015-0316-0/fulltext.html
Reference13 articles.
1. Durand P. Lactosuria idiopatica in una paziente con diarrea ad acidi. Minerva Pediatr. 1958;10:706–11.
2. Lifshitz F. Congenital lactase deficiency. J Pediatr. 1966;69:229–37.
3. Järvelä I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, Peltonen L. Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am J Hum Genet. 1998;63:1078–85.
4. Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, et al. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am J Hum Genet. 2006;78:339–44.
5. Järvelä I, Torniainen S, Kolho KL. Molecular genetics of human lactase deficiencies. Ann Med. 2009;41:568–75.
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